Canonical Allele Identifier: CA912974895

Gene: CLN5 FBXL3

Linked Data

• MyVariant Identifiers: chr13:g.77570263dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996128dup , CM000675.2:g.76996128dup	GRCh38
NC_000013.10:g.77570263dup , CM000675.1:g.77570263dup	GRCh37
NC_000013.9:g.76468264dup	NCBI36
NG_009064.1:g.9205dup , LRG_692:g.9205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+1dup (CLN5)
ENST00000485938.4:c.566dup (CLN5)	ENSP00000482959.3:p.Lys190Ter
ENST00000616833.6:c.565+1dup (CLN5)
ENST00000635838.1:c.174+1dup
ENST00000635905.1:n.566+1dup (CLN5)
ENST00000635915.1:c.563+1dup (CLN5)
ENST00000636183.2:c.565+1dup (CLN5)
ENST00000636520.1:n.2078dup (CLN5)
ENST00000636525.2:c.565+1dup (CLN5)
ENST00000636602.1:n.512dup (CLN5)
ENST00000636681.1:c.*256+1dup (CLN5)
ENST00000636705.1:c.401+1dup (CLN5)
ENST00000636767.2:c.565+1dup (CLN5)
ENST00000636780.2:c.565+1dup (CLN5)
ENST00000637192.1:c.213+1dup
ENST00000637278.1:n.891+1dup (CLN5)
ENST00000637397.2:c.565+1dup (CLN5)
ENST00000637537.2:c.565+1dup (CLN5)
ENST00000638101.1:c.169+1dup
ENST00000638147.2:c.565+1dup
ENST00000377453.7:c.712+1dup (CLN5)
ENST00000485797.2:n.174-3176dup (FBXL3)
ENST00000485938.2:c.549dup (CLN5)
ENST00000616833.4:c.565+1dup (CLN5)
NM_006493.2:c.712+1dup , LRG_692t1:c.712+1dup (CLN5)
XM_011534917.1:c.712+1dup (CLN5)
NM_001366624.1:c.565+1dup (CLN5)
NM_006493.3:c.565+1dup (CLN5)
XM_017020538.2:c.644-3176dup (FBXL3)	XP_016876027.1:n.644-3176dup
NM_001366624.2:c.565+1dup (CLN5)
NM_006493.4:c.565+1dup (CLN5)